RGD:11586134 Rat Genome Database

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Variant: RGD:11586134 -  Homo sapiens

RGD ID: 11586134
RS ID: rs190481949
ClinVar ID: CV301577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,963,797
GRCh38 5 141,584,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.141584230G>A
NC_000005.9:g.140963797G>A
NM_001079812.3:c.274-5C>T
NM_001314007.2:c.301-5C>T
More... 		10/26/2020 intron variant likely benign|uncertain significance Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome; Seizures, cortical blindness, and microcephaly syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DIAPH1
Accession:XM_047416884
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_001314007
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416885
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_005219
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_001079812
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000285720 CLINVAR
  RCV001404213 CLINVAR
  RCV002520328 CLINVAR
  RCV003970020 CLINVAR
dbSNP (RS) rs190481949 CLINVAR
MedGen C0950123 CLINVAR
  C1852282 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 124900 CLINVAR
  602121 CLINVAR
  616632 CLINVAR